Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
| Τίτλος | Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2016 |
| Authors | Vargiami, E., Ververi A., Al-Mutawa H., Gioula G., Gerou S., Rouvalis F., Kambouris M., & Zafeiriou D. I. |
| Journal | Case Rep Genet |
| Volume | 2016 |
| Pagination | 3056053 |
| Date Published | 2016 |
| ISSN | 2090-6544 |
| Abstract | Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO. |
| DOI | 10.1155/2016/3056053 |
| Alternate Journal | Case Rep Genet |
| PubMed ID | 27239352 |
| PubMed Central ID | PMC4867054 |
